Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability

Forgotten Diseases Research Foundation

Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome

Figure 2. [Broad terminal phalanges (A) and broad, radially deviated thumbs (B)]. - GeneReviews® - NCBI Bookshelf

Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

genereviews.org - GeneReviews® - NCBI Bookshelf

Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways - Journal of Pediatric and Adolescent Gynecology

Legius Syndrome - an overview

Expanding the phenotype associated to KMT2A variants: overlapping

PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly